Author details

Full Name

Ann-Christine SyvÃ¤nen

Affiliation

ORCID

Career Start Year

1979

Papers

322

H Index

Expertise

CM4AI Collaborator

PMID	Paper Title	Journal Title	Published Year
37610265	Multimodal Single-Cell Sequencing of B Cells in Primary SjÃ¶gren's Syndrome.	Arthritis Rheumatol	2024
38066241	Multimodal classification of molecular subtypes in pediatric acute lymphoblastic leukemia.	NPJ Precis Oncol	2023
37664045	Feasibility to use whole-genome sequencing as a sole diagnostic method to detect genomic aberrations in pediatric B-cell acute lymphoblastic leukemia.	Front Oncol	2023
35315244	Complement C4 Copy Number Variation is Linked to SSA/Ro and SSB/La Autoantibodies in Systemic Inflammatory Autoimmune Diseases.	Arthritis Rheumatol	2022
34362951	Mutational patterns and clonal evolution from diagnosis to relapse in pediatric acute lymphoblastic leukemia.	Sci Rep	2021
34127828	Variants in BANK1 are associated with lupus nephritis of European ancestry.	Genes and Immunity	2021
33766895	Interaction between the rs11889341(T) risk allele and smoking confers increased risk of myocardial infarction and nephritis in patients with systemic lupus erythematosus.	Annals of the Rheumatic Diseases	2021
34335613	DNA Methylation-Based Interferon Scores Associate With Sub-Phenotypes in Primary SjÃ¶gren's Syndrome.	Frontiers in Immunology	2021
33037003	Molecular pathways in patients with systemic lupus erythematosus revealed by gene-centred DNA sequencing.	Ann Rheum Dis	2021
32724065	Contributions of de novo variants to systemic lupus erythematosus.	European Journal of Human Genetics	2021
32573712	Association of aberrant ASNS imprinting with asparaginase sensitivity and chromosomal abnormality in childhood BCP-ALL.	Blood	2020
32080354	Genome-wide association study of angioedema induced by angiotensin-converting enzyme inhibitor and angiotensin receptor blocker treatment.	Pharmacogenomics J	2020
31958277	Protein and DNA methylation-based scores as surrogate markers for interferon system activation in patients with primary SjÃ¶gren's syndrome.	RMD Open	2020
31640433	Overexpression of chromatin remodeling and tyrosine kinase genes in iAMP21-positive acute lymphoblastic leukemia.	Leuk Lymphoma	2020
32054878	Refined detection and phasing of structural aberrations in pediatric acute lymphoblastic leukemia by linked-read whole-genome sequencing.	Sci Rep	2020
31826855	High genetic risk score is associated with early disease onset, damage accrual and decreased survival in systemic lupus erythematosus.	Annals of the Rheumatic Diseases	2020
32496628	Exome Sequencing Reveals Common and Rare Variants in F5 Associated With ACE Inhibitor and Angiotensin Receptor Blocker-Induced Angioedema.	Clin Pharmacol Ther	2020
33104735	Function of multiple sclerosis-protective HLA class I alleles revealed by genome-wide protein-quantitative trait loci mapping of interferon signalling.	PLoS Genetics	2020
30707351	Whole-genome sequencing identifies complex contributions to genetic risk by variants in genes causing monogenic systemic lupus erythematosus.	Human Genetics	2019
30459414	A rare regulatory variant in the MEF2D gene affects gene regulation and splicing and is associated with a SLE sub-phenotype in Swedish cohorts.	Eur J Hum Genet	2019
30206357	Exploring rare and low-frequency variants in the Saguenay-Lac-Saint-Jean population identified genes associated with asthma and allergy traits.	Eur J Hum Genet	2019
30525907	Allele-Specific Methylation of SPDEF: A Novel Moderator of Psychosocial Stress and Substance Abuse.	Am J Psychiatry	2019
30801692	Interferon signature in patients with STAT1 gain-of-function mutation is epigenetically determined.	European Journal of Immunology	2019
31428085	Shared and Unique Patterns of DNA Methylation in Systemic Lupus Erythematosus and Primary SjÃ¶gren's Syndrome.	Frontiers in Immunology	2019
31156624	Circulating Levels of Interferon Regulatory Factor-5 Associates With Subgroups of Systemic Lupus Erythematosus Patients.	Front Immunol	2019
31300459	Genetic variations in A20 DUB domain provide a genetic link to citrullination and neutrophil extracellular traps in systemic lupus erythematosus.	Annals of the Rheumatic Diseases	2019
29360107	Erratum: Sequence data and association statistics from 12,940 type 2 diabetes cases and controls.	Sci Data	2018
28887175	Epigenetics in pediatric acute lymphoblastic leukemia.	Semin Cancer Biol	2018
28968778	Neuronal Expression of Opioid Gene is Controlled by Dual Epigenetic and Transcriptional Mechanism in Human Brain.	Cereb Cortex	2018
29177435	De novo mutations implicate novel genes in systemic lupus erythematosus.	Hum Mol Genet	2018
29475858	The SLE risk allele rs7574865[T] is associated with increased IL-12-induced IFN-Î³ production in T cells from patients with SLE.	Annals of the Rheumatic Diseases	2018
29437559	DNA methylation mapping identifies gene regulatory effects in patients with systemic lupus erythematosus.	Annals of the Rheumatic Diseases	2018
29655283	Transcription profiling of peripheral B cells in antibody-positive primary SjÃ¶gren's syndrome reveals upregulated expression of CX3CR1 and a type I and type II interferon signature.	Scand J Immunol	2018
29514802	Novel gene variants associated with cardiovascular disease in systemic lupus erythematosus and rheumatoid arthritis.	Annals of the Rheumatic Diseases	2018
28097436	Damaged reward areas in human alcoholics: neuronal proportion decline and astrocyte activation.	Acta Neuropathologica	2017
28767105	Erratum: Genetic loci associated with heart rate variability and their effects on cardiac disease risk.	Nat Commun	2017
28341696	A Low-Frequency Inactivating <i>AKT2</i> Variant Enriched in the Finnish Population Is Associated With Fasting Insulin Levels and Type 2 Diabetes Risk.	Diabetes	2017
28806978	Transcriptome sequencing in pediatric acute lymphoblastic leukemia identifies fusion genes associated with distinct DNA methylation profiles.	J Hematol Oncol	2017
28714469	Transancestral mapping and genetic load in systemic lupus erythematosus.	Nat Commun	2017
28613276	Genetic loci associated with heart rate variability and their effects on cardiac disease risk.	Nat Commun	2017
28832569	SweGen: a whole-genome data resource of genetic variability in a cross-section of the Swedish population.	Eur J Hum Genet	2017
28740209	Novel risk genes for systemic lupus erythematosus predicted by random forest classification.	Scientific Reports	2017
29040868	Identification of a novel proinsulin-associated SNP and demonstration that proinsulin is unlikely to be a causal factor in subclinical vascular remodelling using Mendelian randomisation.	Atherosclerosis	2017
29257133	Sequence data and association statistics from 12,940 type 2 diabetes cases and controls.	Sci Data	2017
27899585	SPlinted Ligation Adapter Tagging (SPLAT), a novel library preparation method for whole genome bisulphite sequencing.	Nucleic Acids Res	2017
27618452	The genetics of blood pressure regulation and its target organs from association studies in 342,415 individuals.	Nat Genet	2016
26966136	Epigenome-wide DNA methylation patterns associated with fatigue in primary SjÃ¶gren's syndrome.	Rheumatology	2016
26740508	Identification of novel genetic causes of Rett syndrome-like phenotypes.	J Med Genet	2016
26733290	A novel splicing mutation in the IQSEC2 gene that modulates the phenotype severity in a family with intellectual disability.	European Journal of Human Genetics	2016
26908625	Genome-wide association and Mendelian randomization study of NT-proBNP in patients with acute coronary syndrome.	Human Molecular Genetics	2016